Article
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Diabetologia - 1 Apr 2008
Ellard S, Bellanné-Chantelot C, Hattersley A T
Abstract excerpt
AIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes...
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